SLC36A1

Chr 5

solute carrier family 36 member 1

Also known as: Dct1, LYAAT1, PAT1, TRAMD3

NCBI Gene: 206358 ENSG00000123643 UniProt: Q7Z2H8 OMIM: 606561

The protein functions as an electrogenic proton/amino acid symporter with selectivity for small neutral amino acids and GABA, and may be involved in lysosomal amino acid efflux and neuronal exocytosis. Mutations cause autosomal recessive iminoglycinuria with hyperglycinuria, a benign renal transport disorder typically presenting in childhood with elevated glycine and imino acids in urine. The gene shows low constraint to loss-of-function variation, consistent with the mild clinical phenotype.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Multiple*

Mechanism· predicted